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Two years of newborn screening for cystic fibrosis in North Macedonia: First experience Cover

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 1 (June 2021)
By: ,  ,  ,  ,  ,  ,   and    
Open Access
|Jul 2021
Figures & tables

Figures & Tables

Figure 1

Algorithm for CF NBS in the Republic of North Macedonia.

Table 1

Genotypes of cystic fibrosis patients diagnosed with newborn screening.

Genotype (legacy name)Genotype (cDNA name)n
F508del/F508delc.1521_1523delCTT/c.1521_1523delCTT10
F508del/G542Xc.1521_1523delCTT/c1624G>T3
F508del/G1349Dc.1521_1523delCTT/c.4046G>A1
G542X/N1303Kc.1624G>T/c.3909C>G1
N1303K/G126Dc.3909C>G/c.377G>A1
457TAT>G/CFTRdupexon22c.325_327delTATinsG/CFTRdupexon22a1

[i] a HGVS (Human Genome Variation Society) nomenclature: NC_000007.14: g.(117041992_117054830)_ (117054908_117069810) dup.

DOI: https://doi.org/10.2478/bjmg-2021-0015 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 41 - 46
Published on: Jul 27, 2021
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Cystic fibrosis (CF),
cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations,
Newborn screening (NBS)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2021 S Fustik, V Anastasovska, D Plaseska-Karanfilska, A Stamatova, L Spirevska, M Pesevska, M Terzikj, M Vujovic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 24 (2021): Issue 1 (June 2021)
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